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Article

Ocular manifestations of Niemann-Pick disease type B.

Ophthalmology - 1 Jul 2004

McGovern Margaret M, Wasserstein Melissa P, Aron Alan, Desnick Robert J, Schuchman Edward H, Brodie Scott E

Abstract excerpt

PURPOSE: To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B). DESIGN: Observational case series. PARTICIPANTS: Forty-five patients (23 male and 22 female) with NPD-B from 37 unrelated families. METHODS: Serial clinical evaluations were carried out over a 2- to 14-year period, including a complete physical examination, neurologic assessment, and ophthalmologic examination. Genotyping of...

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Identifiers

PMID: 15234149
DOI: 10.1016/j.ophtha.2003.10.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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